Canonical Allele Identifier: CA343774059
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909739-C-A
MyVariant Identifiers: chr1:g.173878877C>A (hg19) chr1:g.173909739C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909739C>A , CM000663.2:g.173909739C>A GRCh38
NC_000001.10:g.173878877C>A , CM000663.1:g.173878877C>A GRCh37
NC_000001.9:g.172145500C>A NCBI36
NG_012462.1:g.12640G>T , LRG_577:g.12640G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.966G>T MANE Select ENSP00000356671.3:p.Lys322Asn
ENST00000367698.3:c.966G>T ENSP00000356671.3:p.Lys322Asn
ENST00000487183.1:n.617G>T
ENST00000617423.4:c.559+2125G>T ENSP00000478688.1:n.559+2125G>T
NM_000488.3:c.966G>T , LRG_577t1:c.966G>T NP_000479.1:p.Lys322Asn
XM_005245198.2:c.822G>T XP_005245255.1:p.Lys274Asn
NM_001365052.1:c.822G>T NP_001351981.1:p.Lys274Asn
NM_000488.4:c.966G>T MANE Select NP_000479.1:p.Lys322Asn
NM_001365052.2:c.822G>T NP_001351981.1:p.Lys274Asn
NM_001386302.1:c.1089G>T NP_001373231.1:p.Lys363Asn
NM_001386303.1:c.1047G>T NP_001373232.1:p.Lys349Asn
NM_001386304.1:c.945G>T NP_001373233.1:p.Lys315Asn
NM_001386305.1:c.909G>T NP_001373234.1:p.Lys303Asn
NM_001386306.1:c.750G>T NP_001373235.1:p.Lys250Asn
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